#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF724P	440519	broad.mit.edu	37	19	23405874	23405874	+	Silent	SNP	T	T	C	rs568661159		TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr19:23405874T>C	ENST00000418100.1	-	4	1290	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGTATGGTTTTTCTCCAGTAT	0.393																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1171-1173)gaA>gaG																																						SO:0001819	synonymous_variant	0							g.chr19:23405874T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1173A>G	19.37:g.23405874T>C							p.E391E							4	1290	-									Silent	SNP	ENST00000418100.1	37	c.1173A>G																																																																																					0.393	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			4	33	0	0	0	1	0	4	33				
EPN1	29924	broad.mit.edu	37	19	56206611	56206611	+	Silent	SNP	C	C	T	rs537275978		TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr19:56206611C>T	ENST00000270460.6	+	11	1931	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Silent_p.P514P|EPN1_ENST00000411543.2_Silent_p.P626P|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	540	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGTGCCTCCCGTCCCTGGAG	0.716													c|||	1	0.000199681	0.0	0.0	5008	,	,		12678	0.0		0.0	False		,,,				2504	0.001					ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1876-1878)ccC>ccT		epsin 1							24.0	28.0	26.0					19																	56206611		2058	4184	6242	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206611C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1620C>T	19.37:g.56206611C>T						EPN1_ENST00000085079.7_Silent_p.P514P|EPN1_ENST00000270460.6_Silent_p.P540P	p.P626P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	2425	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	540					Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1878C>T	CCDS46199.1																																																																																				0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		13	39	0	0	0	1	0	13	39				
SLC22A14	9389	broad.mit.edu	37	3	38357962	38357962	+	Silent	SNP	G	G	A	rs149735987	byFrequency	TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr3:38357962G>A	ENST00000273173.4	+	9	1771	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	SLC22A14_ENST00000448498.1_Silent_p.P560P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	560			P -> R (in dbSNP:rs240033). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCTGCTGCCGGAAACGCGAG	0.612													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		20099	0.0		0.0	False		,,,				2504	0.0					ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1678-1680)ccG>ccA		solute carrier family 22, member 14		G		44,4362	47.5+/-82.1	0,44,2159	98.0	77.0	84.0		1680	-8.4	0.0	3	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC22A14	NM_004803.3		0,45,6458	AA,AG,GG		0.0116,0.9986,0.346		560/595	38357962	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357962G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1680G>A	3.37:g.38357962G>A						SLC22A14_ENST00000448498.1_Silent_p.P560P	p.P560P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	9	1771	+			560		P -> R (in dbSNP:rs240033).			A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1680G>A	CCDS2677.1																																																																																				0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		13	43	0	0	0	1	0	13	43				
DNASE1L3	1776	broad.mit.edu	37	3	58179028	58179028	+	Intron	SNP	T	T	C	rs3732630	byFrequency	TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr3:58179028T>C	ENST00000394549.2	-	7	1118				DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000483681.1_Silent_p.K281K|DNASE1L3_ENST00000318316.3_Intron	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3						apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ctAACTCATCTTTCCAGGACA	0.428													T|||	2071	0.413538	0.1982	0.4222	5008	,	,		22758	0.6399		0.328	False		,,,				2504	0.5532				Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(841-843)aaA>aaG		deoxyribonuclease I-like 3		T		1090,3316	374.9+/-321.4	126,838,1239	65.0	55.0	58.0			-0.5	0.0	3	dbSNP_107	58	2689,5911	408.9+/-349.7	414,1861,2025	no	intron	DNASE1L3	NM_004944.2		540,2699,3264	CC,CT,TT		31.2674,24.739,29.0558			58179028	3779,9227	2203	4300	6503	SO:0001627	intron_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58179028T>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.801+41A>G	3.37:g.58179028T>C						DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000394549.2_Intron	p.K281K			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	9	1424	-			0					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.843A>G	CCDS2886.1																																																																																				0.428	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		4	31	0	0	0	1	0	4	31				
LMAN2L	81562	broad.mit.edu	37	2	97403762	97403762	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr2:97403762T>A	ENST00000264963.4	-	2	252	c.230A>T	c.(229-231)aAt>aTt	p.N77I	LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.N77I	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	77	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CACCATGGCATTGCCCATCAG	0.488																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(229-231)aAt>aTt		lectin, mannose-binding 2-like							153.0	131.0	139.0					2																	97403762		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97403762T>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.230A>T	2.37:g.97403762T>A	ENSP00000264963:p.Asn77Ile					LMAN2L_ENST00000377079.4_Missense_Mutation_p.N77I|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron	p.N77I	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			2	252	-			77			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.230A>T	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968959	0.74131	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.65916	-0.18;-0.18	5.42	1.35	0.21983	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097527	0.64402	D	0.000002	T	0.66973	0.2844	M	0.82056	2.57	0.80722	D	1	P;B	0.35174	0.488;0.15	B;B	0.43680	0.301;0.427	T	0.65755	-0.6091	10	0.87932	D	0	.	8.8589	0.35245	0.0:0.2431:0.0:0.7569	.	77;77	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	I	77	ENSP00000264963:N77I;ENSP00000366280:N77I	ENSP00000264963:N77I	N	-	2	0	LMAN2L	96767489	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.542000	0.45744	-0.000000	0.14550	-0.379000	0.06801	AAT		0.488	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		10	26	0	0	0	1	0	10	26				
ZNF730	100129543	broad.mit.edu	37	19	23328792	23328792	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr19:23328792A>G	ENST00000597761.2	+	4	1145	c.946A>G	c.(946-948)Aaa>Gaa	p.K316E		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CAAATGCGAAAAATGTGGCAA	0.353																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(946-948)Aaa>Gaa		zinc finger protein 730																																				SO:0001583	missense	100129543							g.chr19:23328792A>G	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.946A>G	19.37:g.23328792A>G	ENSP00000472959:p.Lys316Glu						p.K316E	NM_001277403.1	NP_001264332.1					4	1145	+									Missense_Mutation	SNP	ENST00000597761.2	37	c.946A>G	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.293275	0.00245	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.916	-1.83	0.07833	.	.	.	.	.	T	0.12902	0.0313	N	0.10685	0.025	0.09310	N	1	.	.	.	.	.	.	T	0.31779	-0.9931	6	0.02654	T	1	.	5.8221	0.18534	0.214:0.0:0.786:0.0	.	.	.	.	E	316	.	ENSP00000329365:K316E	K	+	1	0	ZNF730	23120632	0.000000	0.05858	0.020000	0.16555	0.020000	0.10135	-0.619000	0.05572	-0.721000	0.04929	-0.718000	0.03613	AAA		0.353	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		4	19	0	0	0	1	0	4	19				
P4HA3	283208	broad.mit.edu	37	11	73978243	73978243	+	3'UTR	SNP	G	G	A	rs3741132	byFrequency	TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr11:73978243G>A	ENST00000331597.4	-	0	1730				P4HA3_ENST00000427714.2_Nonsense_Mutation_p.Q560*	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III							endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTTGGCTCCTGGCTTCTCTGG	0.562													G|||	1135	0.226637	0.2632	0.1326	5008	,	,		18988	0.2867		0.171	False		,,,				2504	0.2393					ENST00000427714.2																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(1678-1680)Cag>Tag		prolyl 4-hydroxylase, alpha polypeptide III		G		1094,3306	390.7+/-327.8	134,826,1240	34.0	31.0	32.0			0.7	0.1	11	dbSNP_107	32	1320,7266	255.9+/-280.6	106,1108,3079	no	utr-3	P4HA3	NM_182904.3		240,1934,4319	AA,AG,GG		15.3739,24.8636,18.5892			73978243	2414,10572	2200	4293	6493	SO:0001624	3_prime_UTR_variant	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:73978243G>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.*50C>T	11.37:g.73978243G>A						P4HA3_ENST00000331597.4_3'UTR	p.Q560*			Q7Z4N8	P4HA3_HUMAN			13	1706	-	Breast(11;2.31e-05)		0					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Nonsense_Mutation	SNP	ENST00000331597.4	37	c.1678C>T	CCDS8230.1	479	0.21932234432234432	116	0.23577235772357724	47	0.1298342541436464	175	0.30594405594405594	141	0.18601583113456466	G	34	5.342214	0.95783	0.248636	0.153739	ENSG00000149380	ENST00000427714	.	.	.	4.76	0.713	0.18173	.	.	.	.	.	.	.	.	.	.	.	0.21604	P	0.999629991	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.7799	4.6749	0.12706	0.2552:0.0:0.5915:0.1533	rs3741132;rs58596139;rs3741132	.	.	.	X	560	.	ENSP00000401749:Q560X	Q	-	1	0	P4HA3	73655891	0.467000	0.25831	0.138000	0.22173	0.793000	0.44817	0.401000	0.20948	0.045000	0.15804	0.655000	0.94253	CAG		0.562	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		4	21	0	0	0	1	0	4	21				
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		14	3						14	3	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		8	210						8	210	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		22	296						22	296	---	---	---	---
